# Uterine tumors resembling ovarian sex cord tumors: rare case report and literature review

## TL;DR

A rare uterine tumor resembling ovarian sex cord tumors was diagnosed and successfully treated in a 38-year-old woman, with genomic testing confirming its fusion-negative status and no signs of recurrence after 20 months.

## Contribution

This case report adds a new clinical and molecular profile to the understanding of fusion-negative UTROSCT and highlights genomic profiling's role in diagnosis and prognosis.

## Key findings

- The tumor showed fusion-negative status with no pathogenic fusions in ESR1, GREB1, NCOA2/3, or NR4A3.
- No mutations were found in TP53, BRCA1/2, or mismatch-repair genes.
- The patient remained disease-free for 20 months post-treatment with preserved fertility.

## Abstract

Uterine tumors resembling ovarian sex-cord tumors (UTROSCT) are rare mesenchymal neoplasms with low malignant potential and polyphenotypic immunoprofiles. A 38-year-old nullipara presented with menorrhagia; trans-vaginal ultrasound revealed a 26-mm, richly vascular submucosal mass. Complete hysteroscopic excision was achieved without residual disease. Microscopy showed anastomosing cords, hollow tubules and bland spindled cells (0–1 mitosis/10 HPF). Immunohistochemistry demonstrated diffuse AE1/3, CD56, WT-1 and synaptophysin positivity, while inhibin-α, calretinin and ER/PR were negative; desmin highlighted entrapped myometrium. Ki-67 index was ~5%. Break-apart FISH and next-generation sequencing (141-gene solid-tumor panel) disclosed no pathogenic fusions involving ESR1, GREB1, NCOA2/3 or NR4A3, nor mutations in TP53, BRCA1/2 or mismatch-repair genes, consistent with the fusion-negative UTROSCT subset (~30–45% of cases). At 20 months the patient is disease-free with regular menses and intact fertility. We review diagnostic clues, differential diagnoses, molecular taxonomy and fertility-sparing strategies, underscoring the value of comprehensive genomic profiling for accurate classification and prognostication of this uncommon uterine tumor.